Gene Summary

Name:
ring finger protein 169
Synonyms:
2900057K09Rik

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased monocyte cell number Rnf169tm1a(EUCOMM)Hmgu HOM Early adult 7.54×10-08
decreased CD8-positive, alpha-beta T cell number Rnf169tm1a(EUCOMM)Hmgu HOM Early adult 5.08×10-05
decreased circulating free fatty acids level Rnf169tm1a(EUCOMM)Hmgu HOM   Early adult 7.73×10-05
abnormal bone mineralization Rnf169tm1a(EUCOMM)Hmgu HOM Early adult 4.71×10-09
increased bone mineral content Rnf169tm1a(EUCOMM)Hmgu HOM Early adult 3.58×10-05
decreased bone mineral density Rnf169tm1a(EUCOMM)Hmgu HOM Early adult 1.61×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Rnf169 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Rnf169 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Eosinophilia, Monocytosis, Congenital agranulocytosis, Thrombocytosis, ... OMIM:202700
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of CD4-posi... OMIM:618204
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thrombocytopenia, Hemolytic anemia, Pancytop... OMIM:614470
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:312863
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Refractory anemia, Leukopenia, Monocytosis, Acute myeloid leukemia OMIM:616871
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Autosomal Dominant Severe Congenital Neutropenia
Lymphopenia, Osteopenia, Eosinophilia, Monocytosis, Aplastic anemia, Acute lymphoblastic leukemia... ORPHA:486
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Lymphopenia, Neutropenia ORPHA:2688
Immunodeficiency 97 With Autoinflammation
Neutropenia in presence of anti-neutropil antibodies, Lymphopenia, Hemophagocytosis, Splenomegaly... OMIM:619802
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly OMIM:269840
Cd8 Deficiency, Familial
Absence of CD8-positive T cells OMIM:608957
Neutropenia, Severe Congenital, X-Linked
Decreased CD4:CD8 ratio, Monocytopenia, Neutropenia OMIM:300299
Immunodeficiency 21
Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemia, Myeloid leukemia, Neutrope... OMIM:614172
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, T lymp... ORPHA:169154
Hypophosphatemic Bone Disease
Osteomalacia, Rickets OMIM:146350
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Hypercholanemia, Familial 1
Rickets, Steatorrhea OMIM:607748
Tyrosinemia Type 1
Rickets of the lower limbs, Splenomegaly ORPHA:882
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis OMIM:610680
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Monocytosis, Thrombocytopenia OMIM:619644
Hypophosphatasia, Adult
Recurrent fractures, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Ri... OMIM:146300
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Hypoplasia of the thymus, Decreased proportion of C... OMIM:617241
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Decreased helper T cell proportion, T lymphocytopenia OMIM:601705
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Rickets of the lower limbs, Delayed epiphyseal ossification, Sparse bone trabeculae, Thin bony co... OMIM:600785
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:193100
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells OMIM:611926
Axial Osteomalacia
Osteomalacia, Increased bone mineral density OMIM:109130
Ghosal Hematodiaphyseal Dysplasia
Hyperostosis cranialis interna, Myelofibrosis, Increased bone mineral density, Leukopenia, Refrac... OMIM:231095
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... OMIM:212050
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis, Rickets OMIM:611590
Disorder Of Bile Acid Synthesis
Rickets ORPHA:79168
Bile Acid Conjugation Defect 1
Rickets OMIM:619232
Renal Tubular Acidosis Iii
Osteomalacia, Rickets OMIM:267200
Autosomal Dominant Hypophosphatemic Rickets
Tooth abscess, Osteomalacia, Rickets, Iron deficiency anemia ORPHA:89937
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Neutropenia, Lymphopenia, Abnormally low T cell receptor excision circle level, Hepatosplenomegal... OMIM:618986
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets OMIM:613388
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Decreased proportio... ORPHA:911
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Monocytosis, Hepatosplenomegaly, Leukopenia,... OMIM:612541
Immunodeficiency 13
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Bile Acid Synthesis Defect, Congenital, 1
Hypocholesterolemia, Splenomegaly, Rickets, Steatorrhea OMIM:607765
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Rickets, Splenomegaly OMIM:211600
Progressive Multifocal Leukoencephalopathy
Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells ORPHA:217260
Hypophosphatemic Rickets, X-Linked Recessive
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:300554
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:600081
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets OMIM:602722
Hypocalcemic Vitamin D-Resistant Rickets
Recurrent fractures, Bone cyst, Osteomalacia, Abnormal bone structure, Osteolysis, Coarse metaphy... ORPHA:93160
Immunodeficiency 102
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of CD8-positive, alpha... OMIM:301082
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Pathologic fracture, Hypophosphatemic rickets, Osteomalacia, Reduced bone mineral density ORPHA:157215
Renal Tubular Acidosis, Distal, 1
Osteomalacia, Pathologic fracture OMIM:179800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Craniosynostosis, Limited elbow movement, T lymphocytopenia, Decreased proportion of... ORPHA:508533
Fanconi Renotubular Syndrome 1
Osteomalacia, Rickets OMIM:134600
Selective Igm Deficiency
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of transitional B cell... ORPHA:331235
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Recurrent fractures, Hypophosphatemic rickets, Delayed epiphyseal ossification, Sparse bone trabe... OMIM:241530
Infantile Systemic Hyalinosis
Recurrent fractures, Joint stiffness, Steatorrhea, Osteopenia, Camptodactyly of finger, Osteomala... ORPHA:2176
Fanconi Renotubular Syndrome 3
Rickets OMIM:615605
Immunodeficiency 17
Decreased proportion of CD8-positive T cells, Autoimmune hemolytic anemia, Abnormal B cell morpho... OMIM:615607
Immunodeficiency 85 And Autoimmunity
Oligoarthritis, Lymphopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cel... OMIM:619510
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Osteoporosis, Rickets OMIM:560000
Dermatosparaxis Ehlers-Danlos Syndrome
Joint stiffness, Osteopenia, Osteomalacia, Osteoporosis, Joint hyperflexibility, Rickets ORPHA:1901
Pancreatic Triacylglycerol Lipase Deficiency
Steatorrhea, Osteomalacia, Osteoporosis, Iron deficiency anemia, Rickets ORPHA:309031
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Rickets OMIM:219900
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:264700
Hypophosphatemic Rickets, X-Linked Dominant
Osteoarthritis, Hypophosphatemic rickets, Osteomalacia, Rickets OMIM:307800
Dent Disease 1
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... OMIM:300009
Autosomal Recessive Hypophosphatemic Rickets
Rickets of the lower limbs, Pseudo-fractures, Hypophosphatemic rickets, Increased bone mineral de... ORPHA:289176
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Rickets, Steatorrhea ORPHA:79303
Vitamin D-Dependent Rickets, Type 2A
Recurrent fractures, Sparse bone trabeculae, Delayed epiphyseal ossification, Thin bony cortex, R... OMIM:277440
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin bony cortex, Increase... ORPHA:289157
Mccune-Albright Syndrome
Recurrent fractures, Monostotic fibrous dysplasia, Fibrous dysplasia of the bones, Increased circ... ORPHA:562
Wiskott-Aldrich Syndrome
Lymphopenia, Eosinophilia, Absent microvilli on the surface of peripheral blood lymphocytes, Decr... OMIM:301000
Fibrous Dysplasia Of Bone
Fibrous dysplasia of the bones, Increased circulating cortisol level, Osteomalacia, Thin bony cor... ORPHA:249
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets OMIM:612089
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Recurrent fractures, Rickets OMIM:268315
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Osteopenia, Rickets ORPHA:2088
Celiac Disease, Susceptibility To, 1
Steatorrhea, Osteoporosis, Iron deficiency anemia, Macrocytic anemia, Thrombocytosis, Rickets OMIM:212750
X-Linked Hypophosphatemia
Craniosynostosis, Reduced bone mineral density, Arthritis, Vertebral hyperostosis, Generalized os... ORPHA:89936
Pgm3-Cdg
Abnormal proportion of CD8-positive T cells, Osteomyelitis, Lymphopenia, Neutropenia in presence ... ORPHA:443811
Hypophosphatemic Rickets
Joint stiffness, Fibrous dysplasia of the bones, Periapical tooth abscess, Osteomalacia, Patchy v... ORPHA:437
Cystinosis
Rickets ORPHA:213
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Erythroid hypoplasia, Decreased proport... ORPHA:101096
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Rickets OMIM:616026
Dent Disease
Recurrent fractures, Delayed epiphyseal ossification, Sparse bone trabeculae, Osteomalacia, Thin ... ORPHA:1652
Neu-Laxova Syndrome
Flexion contracture, Osteopenia, Osteomalacia, Osteoporosis, Arthrogryposis multiplex congenita, ... ORPHA:2671
Fanconi-Bickel Syndrome
Osteomalacia OMIM:227810
Mandibuloacral Dysplasia
Acroosteolysis of distal phalanges (feet), Hypertriglyceridemia, Contractures of the large joints... ORPHA:2457
Distal Renal Tubular Acidosis
Reduced bone mineral density, Osteomalacia, Hemolytic anemia, Increased susceptibility to fractur... ORPHA:18
Wilson Disease
Splenomegaly, Osteoarthritis, Osteomalacia, Osteoporosis, Hemolytic anemia, Joint hypermobility, ... OMIM:277900
Hypocalciuric Hypercalcemia, Familial, Type Iii
Osteomalacia OMIM:600740
Autoimmune Lymphoproliferative Syndrome
Abnormal proportion of CD8-positive T cells, Lymphopenia, Coombs-positive hemolytic anemia, Lymph... ORPHA:3261
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Splenomegaly, Osteomalacia, B lymphocytopen... OMIM:619381
Rajab Interstitial Lung Disease With Brain Calcifications 1
Reduced bone mineral density, Osteopenia, Thin bony cortex, Joint laxity, Pancytopenia, Anemia, R... OMIM:613658
Lowe Oculocerebrorenal Syndrome
Joint contracture of the hand, Camptodactyly of finger, Osteomalacia, Pathologic fracture, Joint ... OMIM:309000
Occipital Horn Syndrome
Osteopenia, Osteomalacia, Osteoporosis, Synostosis of joints, Osteolysis, Joint hyperflexibility,... ORPHA:198
Oculocerebrorenal Syndrome Of Lowe
Recurrent fractures, Joint stiffness, Anemia, Osteomalacia, Arthritis, Hypercholesterolemia, Hype... ORPHA:534
Infantile Nephropathic Cystinosis
Rickets ORPHA:411629
Primary Fanconi Renotubular Syndrome
Hypophosphatemic rickets, Osteomalacia, Increased susceptibility to fractures ORPHA:3337
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Abnormally ossified vertebrae, Osteopenia, Osteomalacia, Osteoporosis, Rickets ORPHA:2636
Familial Hypocalciuric Hypercalcemia
Osteomalacia ORPHA:405
Cystinosis, Nephropathic
Hypophosphatemic rickets, Rickets, Splenomegaly OMIM:219800
Generalized Arterial Calcification Of Infancy
Fused cervical vertebrae, Hypophosphatemic rickets, Osteomalacia, Abnormal calcification of the c... ORPHA:51608

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rnf169

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rnf169.

No publications found that use IMPC mice or data for Rnf169.

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MGI Allele Allele Type Produced
Rnf169tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rnf169tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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